Variant report

Variant	nsv1001338
Chromosome Location	chr4:125708756-126103293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:99)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:126076892..126079721-chr4:126081232..126083896,2	K562	blood:
2	chr4:125887745..125891484-chr4:125891733..125896629,5	MCF-7	breast:
3	chr4:125741503..125743157-chr4:125746025..125748000,2	K562	blood:
4	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
5	chr4:125898956..125899457-chr4:126053199..126053699,2	MCF-7	breast:
6	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
7	chr4:125884733..125886717-chr4:125893872..125895468,2	MCF-7	breast:
8	chr4:125882105..125884448-chr4:125895502..125897123,2	MCF-7	breast:
9	chr4:125631616..125633726-chr4:125883727..125886839,4	MCF-7	breast:
10	chr4:125808803..125809436-chr4:125885151..125885920,2	MCF-7	breast:
11	chr4:125918209..125919941-chr4:125924627..125926598,2	MCF-7	breast:
12	chr4:125866968..125869585-chr4:125874364..125876990,2	MCF-7	breast:
13	chr4:125922512..125924813-chr4:125925449..125928417,2	MCF-7	breast:
14	chr4:125878708..125881859-chr4:125882338..125884780,4	MCF-7	breast:
15	chr4:125878708..125881859-chr4:125882338..125884780,4	MCF-7	breast:
16	chr4:125632730..125635851-chr4:125862256..125864898,4	MCF-7	breast:
17	chr4:125895927..125898142-chr4:125907612..125910086,2	MCF-7	breast:
18	chr4:125779700..125781513-chr4:125782014..125784982,2	MCF-7	breast:
19	chr4:125879691..125882061-chr4:125882934..125885892,2	MCF-7	breast:
20	chr4:126076892..126079721-chr4:126081232..126083896,2	K562	blood:
21	chr4:125894962..125895829-chr4:126052780..126053415,4	MCF-7	breast:
22	chr4:125633614..125636587-chr4:125806033..125809617,4	MCF-7	breast:
23	chr4:125918209..125919941-chr4:125924627..125926598,2	MCF-7	breast:
24	chr4:125631771..125634938-chr4:125861010..125864557,5	MCF-7	breast:
25	chr4:125923005..125925497-chr4:125931672..125933997,2	MCF-7	breast:
26	chr4:126034179..126034699-chr7:139999710..140000233,2	MCF-7	breast:
27	chr12:92539244..92540153-chr4:125785568..125786476,2	Hela-S3	cervix:
28	chr4:125875190..125876989-chr4:125883949..125885613,2	MCF-7	breast:
29	chr4:125633372..125635568-chr4:125854459..125856235,2	MCF-7	breast:
30	chr4:126017386..126018278-chr4:126052825..126053735,4	MCF-7	breast:
31	chr4:125766671..125769138-chr4:125772617..125775217,3	MCF-7	breast:
32	chr4:125894953..125895938-chr4:126053118..126053673,4	MCF-7	breast:
33	chr4:125857080..125860001-chr4:125867292..125869846,2	MCF-7	breast:
34	chr4:125632485..125635693-chr4:125853926..125858479,5	MCF-7	breast:
35	chr4:125702474..125705309-chr4:125716481..125718670,2	K562	blood:
36	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
37	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
38	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:
39	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
40	chr4:126055369..126057871-chr4:126063340..126065751,2	MCF-7	breast:
41	chr4:125632895..125634759-chr4:125807417..125811100,3	MCF-7	breast:
42	chr4:125923005..125925497-chr4:125931672..125933997,2	MCF-7	breast:
43	chr4:126017386..126018278-chr4:126052825..126053735,4	MCF-7	breast:
44	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:
45	chr4:125894953..125895938-chr4:126053118..126053673,4	MCF-7	breast:
46	chr4:125632553..125635097-chr4:126020630..126023611,2	MCF-7	breast:
47	chr4:125857080..125860001-chr4:125867292..125869846,2	MCF-7	breast:
48	chr4:125633701..125635480-chr4:125900755..125903375,2	MCF-7	breast:
49	chr4:125887745..125891484-chr4:125891733..125896629,5	MCF-7	breast:
50	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245904	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000151458	chromatin interactions

Extended variants
information (count: 12078 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:12078 , 50 per page) page: 1 2 3 4 5 6 7 ... 242

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570805372	chr4:125708759-125708760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538668209	chr4:125708778-125708779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566272128	chr4:125708793-125708794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550289885	chr4:125708879-125708880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72683813	chr4:125708903-125708904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs72683814	chr4:125708963-125708964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72683815	chr4:125708996-125708997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573084598	chr4:125709003-125709004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533930503	chr4:125709035-125709036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558941821	chr4:125709043-125709044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577056145	chr4:125709130-125709131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186605896	chr4:125709163-125709164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562759783	chr4:125709208-125709209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574738904	chr4:125709351-125709352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544034806	chr4:125709371-125709372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556423454	chr4:125709419-125709420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150960266	chr4:125709420-125709421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116563438	chr4:125709472-125709473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537640643	chr4:125709533-125709534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192583424	chr4:125709536-125709537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557892028	chr4:125709576-125709577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531889113	chr4:125709593-125709594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550422881	chr4:125709601-125709602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200026377	chr4:125709637-125709638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10571455	chr4:125709638-125709639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185415091	chr4:125709643-125709644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529679157	chr4:125709656-125709657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112711575	chr4:125709657-125709658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140801030	chr4:125709678-125709679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201308135	chr4:125709682-125709683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566570855	chr4:125709689-125709690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573539645	chr4:125709695-125709696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534021178	chr4:125709696-125709697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150111409	chr4:125709700-125709701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111498475	chr4:125709704-125709705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376764585	chr4:125709706-125709707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560485796	chr4:125709738-125709739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10034605	chr4:125709755-125709756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62322124	chr4:125709763-125709764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574742538	chr4:125709764-125709765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147119146	chr4:125709779-125709780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192953316	chr4:125709797-125709798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185262122	chr4:125709811-125709812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371214662	chr4:125709829-125709830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551518702	chr4:125709861-125709862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188717432	chr4:125709872-125709873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138517304	chr4:125709917-125709918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531899778	chr4:125709918-125709919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114738607	chr4:125709931-125709932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10025549	chr4:125709967-125709968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125708400-125709000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:125709000-125709200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:125709200-125710600	Enhancers	Brain Germinal Matrix	brain
4	chr4:125710600-125712000	Weak transcription	Brain Germinal Matrix	brain
5	chr4:125712000-125712400	Enhancers	Brain Germinal Matrix	brain
6	chr4:125712400-125713400	Weak transcription	Brain Germinal Matrix	brain
7	chr4:125713400-125713600	Enhancers	Brain Germinal Matrix	brain
8	chr4:125717000-125717400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:125717400-125718600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:125718200-125718800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:125718600-125719000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:125724000-125726000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:125724000-125726400	Enhancers	NHEK	skin
14	chr4:125724200-125724600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:125724200-125726200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:125724600-125759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:125724800-125725400	Enhancers	HUVEC	blood vessel
18	chr4:125725400-125725800	Enhancers	Osteobl	bone
19	chr4:125725800-125726200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:125725800-125726400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:125725800-125726600	Enhancers	Colon Smooth Muscle	Colon
22	chr4:125726000-125727200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:125726400-125726600	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:125726600-125731400	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:125726800-125731200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:125727200-125727800	Enhancers	Brain Germinal Matrix	brain
27	chr4:125727600-125727800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:125727600-125727800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:125728200-125729400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:125728400-125729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:125728600-125729400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:125728800-125729200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:125729000-125729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:125729000-125731600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:125729200-125731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:125729400-125729600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:125729400-125731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:125729400-125731600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:125729600-125730800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:125729600-125731800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:125730800-125731600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:125731200-125733000	Enhancers	Rectal Smooth Muscle	rectum
43	chr4:125731400-125732200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:125731400-125732200	Enhancers	Colon Smooth Muscle	Colon
45	chr4:125731400-125732400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:125731600-125732600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:125731600-125732600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:125731600-125733400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:125731800-125732200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:125731800-125732800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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